Associated Papers
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
31342611 (PubMed )
Supplement: HUMU-40-2146-s001.pdf
Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease.
Papadopoulos C et al.
Molecular Genetics and Metabolism, 2017
Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients.
Masat E et al.
Scientific Reports, 2016
27812025 (PubMed )
Supplement: srep36182-s1.pdf
Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease.
Orlikowski D et al.
Neuromuscular Disorders : Nmd, 2011
Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.
Bali DS et al.
Muscle & Nerve, 2011
Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes.
Zampieri S et al.
European Journal of Human Genetics : Ejhg, 2011
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
Kroos M et al.
Human Mutation, 2008
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